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Article

Using ClinVar as a Resource to Support Variant Interpretation.

Current protocols in human genetics - 1 Apr 2016

Harrison Steven M, Riggs Erin R, Maglott Donna R, Lee Jennifer M, Azzariti Danielle R, Niehaus Annie, Ramos Erin M, Martin Christa L, Landrum Melissa J, Rehm Heidi L

Abstract excerpt

ClinVar is a freely accessible, public archive of reports of the relationships among genomic variants and phenotypes. To facilitate evaluation of the clinical significance of each variant, ClinVar aggregates submissions of the same variant, displays supporting data from each submission, and determines if the submitted clinical interpretations are conflicting or concordant. The unit describes how to (1) identify...

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Identifiers

PMID: 27037489
DOI: 10.1002/0471142905.hg0816s89
PMCID: PMC4832236

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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